ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1089C>T (p.Ile363=)

gnomAD frequency: 0.00015  dbSNP: rs140902511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456887 SCV000554488 likely benign Brugada syndrome 8 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001721505 SCV000728542 likely benign not provided 2019-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621699 SCV000737509 likely benign Cardiovascular phenotype 2016-08-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV000613940 SCV001924775 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001721505 SCV001964603 likely benign not provided no assertion criteria provided clinical testing

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